Challenges of suffering from a rare disease


Patients with rare diseases have to consult one doctor after the other for years looking for answers. Inspite of all the technological advancements in healthcare, which improve patient provider communication the path to curing is challenging.

Global Genes, a rare disease advocacy non-profit organization says that patients suffering from a rare disease visit an average of 7.3 physicians before they arrive at an accurate diagnosis. This process takes 4.8 years on an average.

Most rare diseases are progressive thus, a delay in diagnosis leads to a delay in treatment and may have negative health consequences.

Global Genes reports that approximately 7,000 rare diseases and disorders have been identified so far. Collectively rare diseases are a major burden in America as they impact 10% of the population. While 80% are caused by faulty genes and about 50% of patients affected by rare diseases are children.

Getting an accurate diagnosis is an uphill task.  Adding to their woes, doctors may not be able to help or dismiss patients without thorough investigation. Some might be told that they are hypochondriac (making up symptoms) and refer them to a psychiatrist.